V21E (p.Val21Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V21E (p.Val21Glu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- rs1362750360
- ClinGen CA380342002
- ClinVar RCV004007967
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available